Collins, Francis S., Ari Patrinos, Elke Jordan, Aravinda Chakravarti, Raymond Gesteland and LeRoy Walters. 1998. "New Goals for the U.S. Human Genome Project: 1998-2003." Science 282(5389):682-89.
Pharoah, Paul. 2001. "Genetics and Public Health in the 21st Century: Using Genetic Information to Improve Health and Prevent Disease." British Medical Journal 322(7293):1068-68.
Collins, Francis S., Michael Morgan and Aristides Patrinos. 2003. "The Human Genome Project: Lessons from Large-Scale Biology." Science 300(5617):286-90.
Anderson, Stephanie L. 2007. "The Human Genome Project." in Legal Medicine, edited by American College of Legal Medicine and S. S. Sanbar: Mosby/Elsevier.
Zwart, Hub and Annemiek Nelis. 2009. "What Is Elsa Genomics? ." EMBO reports 10(6):540-44.
Green, Eric D., James D. Watson and Francis S. Collins. 2015. "Human Genome Project: Twenty-Five Years of Big Biology." Nature 526(7571):29-31.
Gibbon, Sahra Prainsack Barbara Hilgartner Stephen Lamoreaux Janelle. 2020. Routledge Handbook of Genomics, Health and Society: Routledge.
Litton, Jan-Eric. 2018. "Launch of an Infrastructure for Health Research: BBMRI-ERIC." Biopreservation and Biobanking 16(3):233-41.
希少疾患領域のELSIに関する学術論文
Hartman, Adam L., Anneliene Hechtelt Jonker, Melissa A. Parisi, Daria Julkowska, Nicole Lockhart and Rosario Isasi. 2020. "Ethical, Legal, and Social Issues (ELSI) in Rare Diseases: A Landscape Analysis from Funders." European Journal of Human Genetics 28(2):174-81.
Hurwitz, Rosanne Apfeldorf. 1985. "Legal and Ethical Issues in the Clinical Testing of Drugs for Rare Diseases." Food, Drug, Cosmetic Law Journal 40(3):396-415.
Gericke, C. A., A. Riesberg and R. Busse. 2005. "Ethical Issues in Funding Orphan Drug Research and Development." Journal of Medical Ethics 31(3):164-68.
Dunoyer, Marc. 2011. "Accelerating Access to Treatments for Rare Diseases." Nature Reviews Drug Discovery 10(7):475-76.
Menon, Devidas, Tania Stafinski, Andrea Dunn and Hilary Short. 2015. "Involving Patients in Reducing Decision Uncertainties around Orphan and Ultra-Orphan Drugs: A Rare Opportunity?". The Patient 8(1):29-39.
Feltmate, Karen, Peter M. Janiszewski, Sheena Gingerich and Michael Cloutier. 2015. "Delayed Access to Treatments for Rare Diseases: Who's to Blame?". Respirology 20(3):361-69.
Gutierrez, Laura, Julien Patris, Adam Hutchings and Warren Cowell. 2015. "Principles for Consistent Value Assessment and Sustainable Funding of Orphan Drugs in Europe." Orphanet Journal of Rare Diseases 10(1):53.
Kacetl, Jaroslav, Petra Marešová, Raihan Maskuriy and Ali Selamat. 2020. "Ethical Questions Linked to Rare Diseases and Orphan Drugs: A Systematic Review." Risk management and healthcare policy 13:2125-48.
Hechtelt Jonker, A., V. Hivert, M. Gabaldo, L. Batista, D. O'Connor, A. Aartsma-Rus, S. Day, K. Sakushima and D. Ardigo. 2020. "Boosting Delivery of Rare Disease Therapies: The Irdirc Orphan Drug Development Guidebook." Nature Reviews Drug Discovery 19(8):495-96.
Koromina, M., V. Fanaras, G. Baynam, C. Mitropoulou and G. P. Patrinos. 2021. "Ethics and Equity in Rare Disease Research and Healthcare." Future Medicine 18(4):407-16.
Dharssi, Safiyya, Durhane Wong-Rieger, Matthew Harold and Sharon Terry. 2017. "Review of 11 National Policies for Rare Diseases in the Context of Key Patient Needs." Orphanet Journal of Rare Diseases 12(1):63.
希少疾患領域のELSIに関する報告書
United States President's Commission for the Study of Ethical Problems in Medicine and Biomedical and Behavioral Research. 1982. "Splicing Life: A Report on the Social and Ethical Issues of Genetic Engineering with Human Beings." President's Commission for the Study of Ethical Problems in Medicine and Biomedical and Behavioral Research.
United States President's Commission for the Study of Ethical Problems in Medicine and Biomedical and Behavioral Research. 1983. "Screening and Counseling for Genetic Conditions: A Report on the Ethical, Social, and Legal Implications of Genetic Screening, Counseling, and Education Programs." United States President's Commission for the Study of Ethical Problems in Medicine and Biomedical and Behavioral Research.
USDOE Office of Energy Research. 1993. "Elsi Bibliography: Ethical Legal and Social Implications of the Human Genome Project." Vol.: USDOE Office of Energy Research, Washington, DC.
National Human Genome Research Institute. 1996. "Review of the Ethical, Legal and Social Implications Research Program and Related Activities (1990-1995)." National Human Genome Research Institute.
European Parliament. 2001. "Report on the Ethical, Legal, Economic and Social Implications of Human Genetics." European Parliament.
European Organisation for Rare Diseases (EURORDIS). 2005. "Rare Diseases: Understanding This Public Health Priority." European Organisation for Rare Diseases (EURORDIS).
European Organisation for Rare Diseases (EURORDIS). 2013. "The Voice of 12,000 Patients: Experiences and Expectations of Rare Disease Patients on Diagnosis and Care in Europe." European Organisation for Rare Diseases (EURORDIS).
Shire Human Genetic Technologies. 2013. "Rare Disease Impact Report: Insights from Patients and the Medical Community." Shire Human Genetic Technologies.
International Rare Diseases Research Consortium (IRDiRC). 2017. "Cross-Cutting Bottlenecks and Solutions in Rare Disease Research." International Rare Diseases Research Consortium (IRDiRC).
International Federation of Pharmaceutical Manufacturers & Associations. 2017. "Rare Diseases: Shaping a Future with No-One Left Behind." International Federation of Pharmaceutical Manufacturers & Associations.
International Federation of Pharmaceutical Manufacturers & Associations. 2017. "Leaving No-One Behind: A Set of Policy Principles to Meet the Global Challenge of Rare Diseases." International Federation of Pharmaceutical Manufacturers & Associations.
RD-ACTION. 2018. "Overview Report on the State of the Art of Rare Disease Activities in Europe 2018 Version: RD-ACTION Wp6 Output." RD-ACTION.
Rare Diseases International. 2019. "Position Paper: Rare Diseases: Leaving No One Behind in Universal Health Coverage." Rare Diseases International.
The Economist Intelligence Unit（EIU）. 2019. "Creating Healthy Partnerships: The Role of Patient Value and Patient-Centred Care in Health Systems." The Economist Intelligence Unit（EIU）.